A missense mutation in domain III in HSPG2 in Schwartz–Jampel syndrome compromises secretion of perlecan into the extracellular space

Authors

Keywords

Schwartz–Jampel syndrome, Perlecan, Whole genome resequencing analysis

Journal

Volume 25, Issue 8, Pages 667-671

Publisher

Elsevier BV

Online

2015-05-09

DOI

10.1016/j.nmd.2015.05.002

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